April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
47 citations
,
September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
PIKFyve is essential for normal platelet function and its deficiency causes organ issues and macrophage infiltration.
61 citations
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September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
151 citations
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August 2011 in “The EMBO Journal” The enzyme PA-PLA1α is important for proper hair follicle development.
9 citations
,
July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
39 citations
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December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.
10 citations
,
December 2008 in “Molecular Carcinogenesis” The PML protein helps prevent skin cancer in mice.
12 citations
,
June 2020 in “Frontiers in Cell and Developmental Biology” The PP2A-B55α protein is essential for brain and skin development in embryos.
April 2023 in “Journal of Investigative Dermatology” POUF51 and HES3 are key in controlling stem cell numbers in psoriasis.
33 citations
,
February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
103 citations
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March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
1 citations
,
April 2009 in “The Proceedings of the International Plant Nutrition Colloquium XVI” Certain genes may promote longer root hairs in plants when phosphorus is low.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
March 2025 in “International Journal of Molecular Sciences” PLIN2 affects hair growth in cashmere goats, potentially improving cashmere quality.
February 2024 in “Veterinary sciences” Canine pemphigus foliaceus involves significant immune activity and shares similarities with human pemphigus.
6 citations
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December 2023 in “Journal of Molecular Cell Biology” Removing Gsdma1/2/3 genes reduces skin cell overgrowth by blocking a specific cell pathway.
1 citations
,
January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
19 citations
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October 1996 in “International Journal of Dermatology” Pseudopelade is a rare inherited hair loss condition with a genetic cause.
May 2026 in “Research Square” The polyG fragment in Hoxc13 protein helps evolve mammalian skin and hair by enhancing gene interactions.
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
92 citations
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April 2009 in “Journal of Investigative Dermatology” The Celsr1 gene is crucial for normal hair patterning in mice.
165 citations
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September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
1 citations
,
July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
1 citations
,
October 2022 in “Biomedicines” Prdm1 is necessary for early whisker development in mice but not for other hair, and its absence changes nerve and brain patterns related to whiskers.
January 2025 in “Cellular and Molecular Biology” The PIP5K1A gene helps cashmere growth in goats by promoting cell proliferation, and melatonin boosts its expression.